Dahl M, Birkebaek N H, Rungby J, Herlin T
Arhus Universitetshospital, Arhus Kommunehospital, paediatrisk afdeling.
Ugeskr Laeger. 1999 Jun 28;161(26):3996-4000.
Metaphyseal chondrodysplasia (MCD) is a heterogeneous group of diseases characterised by defective enchondral ossification, leading to metaphyseal changes. The different types of MCD can be distinguished by clinical findings, radiology and genetic tests. Based on a case story with MCD, pancreatic insufficiency and granulocytopenia (Shwachman's syndrome), we review the most common types of MCD with regard to clinical manifestations, radiological findings, and genetic background.
干骺端软骨发育异常（MCD）是一组异质性疾病，其特征为软骨内成骨缺陷，导致干骺端改变。不同类型的MCD可通过临床表现、放射学检查和基因检测加以区分。基于一例患有MCD、胰腺功能不全和粒细胞减少症（施瓦赫曼综合征）的病例，我们就临床表现、放射学检查结果和基因背景对最常见的MCD类型进行综述。
